Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Protein JBTS17

The C5ORF42 gene is not yet fully characterized it is involved in autosomal recessive Joubert syndrome and orofaciodigital syndrome 6.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 17
C5ORF42
Orofaciodigital syndrome 06
C5ORF42

References:

1.

Joubert M et. al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

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2.

Srour M et. al. (2012) Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

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3.

Darmency-Stamboul V et. al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

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4.

Lopez E et. al. (2014) C5orf42 is the major gene responsible for OFD syndrome type VI.

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5.

Damerla RR et. al. (2015) Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.

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Update: Sept. 26, 2018